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PubMed2005

[Neuromuscular diseases 2: muscular dystrophies (MD)].

Traditionally, muscular dystrophies (MDs) are progressive, hereditary, and primarily degenerative myopathies. Nowadays, due to molecular biology, MDs are looked upon as clinically and genetically heterogeneous myopathies characterized by protein defects of muscle tissue resulting most often in muscle weakness. They are caused by gene mutations leading to a decrease of structural proteins or enzymes. The site of the primary defect and the protein function are different. The disorders are defined according to the underlying protein defect (dystrophinopathy, calpainopathy, and others). The gene or gene product are not yet known in all forms of MD (for example, facioscapulohumeral muscular dystrophy). Therefore, the nomenclature based on the protein defects and the term MD are used concurrently. Clinical symptoms, pathogenesis, diagnosis, therapy, prognosis, and possible prevention of the more frequent MDs are discussed: dystrophinopathies (Duchenne, Becker type), Emery-Dreifuss syndrome (3 forms), facioscapulohumeral MD, limb-girdle MD (17 forms), myotonic dystrophies (2 forms), and congenital MD (11 forms). This article highlights the significance of molecular analyses and the possible multisystemic symptoms in these myopathies.

Diagnosis, Differential↗
PubMed1992

Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family.

We describe a family in which infantile Werdnig-Hoffmann disease and adult-onset progressive muscular atrophy both occurred. The possibility of these two diseases developing within the same family by chance is unlikely, and several genetic hypotheses may be put forward to explain the association. We suggest that the molecular pathogenesis of these two subtypes of lower motor neuron degeneration may be linked. The genetic defect in the childhood spinal muscular atrophies has been mapped to chromosome 5q in close proximity to the microtubule-associated protein 1B locus. The association of diseases within this family suggests that chromosome 5q should also be studied in relation to adult-onset familial motor neuron disease.

Aged↗
PubMedDate not supplied

[Diagnostic methodology in muscular pathologies].

AIMS: To analyse the different methodologies and their technical approaches, and compare the value and specificity of each of them in the diagnostic interpretation of muscular biopsies. DEVELOPMENT: Since the first descriptions by Duchenne in the 19th century, a series of stages for interpreting muscular biopsies crucial to the methodological approach were developed. The largest groups of muscular diseases (neurogenic atrophy, dystrophy and others), which were established on the basis of purely morphological studies, were later examined using histochemical techniques that allowed some diseases to be considered on an individual basis. One decisive factor in interpreting muscular biopsies and in diagnostic accuracy was the application of immunohistochemical techniques. The discovery of the gene responsible for Duchenne and Becker muscular dystrophies, and the later identification of dystrophin using reverse genetics, triggered off a series of events which led to the identification of various genes and proteins responsible for a number of muscular diseases. From that moment onwards it became possible to distinguish between previously undefined muscular dystrophies, e.g. different types of limb girdle dystrophy, to subclassify allelic diseases, such as Becker muscular dystrophy, and to identify carriers of X-linked diseases, for example. Ultrastructural examinations have also proved to be very useful. CONCLUSION: At present, the degree of diagnostic accuracy achieved in muscular pathologies is remarkable and the discoveries that have gradually been made have marked a series of stages, none of which has excluded the one preceding it and all of which are of great importance when it comes to interpreting a muscular biopsy.

Diagnosis, Differential↗
PubMed1990

[Charcot-Marie-Tooth disease. Peroneal muscular atrophy].

The classification of Charcot-Marie-Tooth disease is provisional, because the chromosome and gene localization is still not precisely known, and gene products have not been identified. This article presents an analysis of the clinical, genetical and neurophysiological data of eight Charcot-Marie-Tooth patients. The study was carried out to find out if it is possible to classify the disease from neurophysiological and genetical data. We found Charcot-Marie-Tooth disease transmitted autosomal dominant in three cases, whereas no family pattern was apparent in the remaining five. Among the three cases of autosomal dominant transmission, two were of the segmental demyelinization type, and one had axonal neuropathy. The five patients without a distinct family pattern consisted of three with segmental demyelinization and two with axonal neuropathy. Thus, the neurophysiological subdivision did not correlate with the inheritance, which indicates a genetical heterogeneity for the Charcot-Marie-Tooth disease.

Adolescent↗
PubMed1997

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.

Spinal muscular atrophy (SMA), one of the most common fatal autosomal recessive diseases, is characterized by degeneration of motor neurons and muscular atrophy. The SMA disease gene, termed Survival of Motor Neurons (SMN), is deleted or mutated in over 98% of SMA patients. The function of the SMN protein is unknown. We found that SMN is tightly associated with a novel protein, SIP1, and together they form a specific complex with several spliceosomal snRNP proteins. SMN interacts directly with several of the snRNP Sm core proteins, including B, D1-3, and E. Interestingly, SIP1 has significant sequence similarity with Brr1, a yeast protein critical for snRNP biogenesis. These findings suggest a role for SMN and SIP1 in spliceosomal snRNP biogenesis and function and provide a likely molecular mechanism for the cause of SMA.

3T3 Cells↗
PubMed1997

[DNA-diagnosis of bulbospinal muscular atrophy (Kennedy's disease)].

Bulbospinal muscular atrophy--a rare disease with X-linked recessive type of inheritance. It is caused by expansion of trinucleotide repetitions in the gene of androgenic receptor (AR). We elaborated a method of DNA-testing with usage of nonradioactive registration of mutant alleles of AR gene. DNA-diagnosis was performed in 16 patients with clinical pattern of bulbospinal muscular atrophy and diagnosis was confirmed in 11 patients. Carriage of mutant alleles was found in 7 women--relatives of the patients. Presymptomatic diagnosis revealed the presence of mutant alleles in 2 boys. Unstability of alleles of mutant AR gene was observed in one family: in sons there was more (upon 5) of CAG-triplets.

Adolescent↗
PubMed1999

The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body.

The spliceosomal snRNAs U1, U2, U4, and U5 are synthesized in the nucleus, exported to the cytoplasm to assemble with Sm proteins, and reimported to the nucleus as ribonucleoprotein particles. Recently, two novel proteins involved in biogenesis of small nuclear ribonucleoproteins (snRNPs) were identified, the Spinal muscular atrophy disease gene product (SMN) and its associated protein SIP1. It was previously reported that in HeLa cells, SMN and SIP1 form discrete foci located next to Cajal (coiled) bodies, the so-called "gemini of coiled bodies" or "gems." An intriguing feature of gems is that they do not appear to contain snRNPs. Here we show that gems are present in a variable but small proportion of rapidly proliferating cells in culture. In the vast majority of cultured cells and in all primary neurons analyzed, SMN and SIP1 colocalize precisely with snRNPs in the Cajal body. The presence of SMN and SIP1 in Cajal bodies is confirmed by immunoelectron microscopy and by microinjection of antibodies that interfere with the integrity of the structure. The association of SMN with snRNPs and coilin persists during cell division, but at the end of mitosis there is a lag period between assembly of new Cajal bodies in the nucleus and detection of SMN in these structures, suggesting that SMN is targeted to preformed Cajal bodies. Finally, treatment of cells with leptomycin B (a drug that blocks export of U snRNAs to the cytoplasm and consequently import of new snRNPs into the nucleus) is shown to deplete snRNPs (but not SMN or SIP1) from the Cajal body. This suggests that snRNPs flow through the Cajal body during their biogenesis pathway.

Animals↗
PubMed1994

[Cervical flexion-induced changes of motor evoked potentials by transcranial magnetic stimulation in a patient with Hirayama disease--juvenile muscular atrophy of unilateral upper extremity].

A 16-year-old girl noticed weakness in the left hand in 1990, which gradually progressed over the next 2 years but then stabilized. Her neurologic and electrophysiological signs were compatible with juvenile muscular atrophy of unilateral upper extremity (Hirayama disease). Cine MRIs demonstrated a mild cervical cord atrophy at the C6 spine level together with an engorged epidural vein at the C4-C6 extradural spaces during neck flexion. Transcranial magnetic stimulation over the motor cortex was carried out with a pickup placed on the contralateral abductor brevis muscle. While neck flexion was maintained, the amplitude of the evoked potentials steadily attenuated and the central motor conduction time lengthened as time passed. After 8 minutes, she began to feel some dullness in the left upper limb. These phenomena were reversible and were observed only on the affected limb. The above facts not only supported the presence of a reversible cortico-efferent dysfunction in Hirayama disease, but also appeared to justify the use of neck collars to treat those afflicted with this entity.

Adolescent↗
PubMed1977

[Landouzy-Dejerine syndrome. Evolution of the concept of facio-scapulo-humeral amyotrophia].

Detailed analysis of the literature and the study of personal cases have led the authors to propose a new concept for facio-scapulo-humeral dystrophy. They consider it to be a syndrome, embracing under the same clinical picture both muscular disease (classical hereditary muscular dystrophy, congenital and acquired myopathies) and neurological disease (in particular progressive pseudomyopathic amyotrophy).

Facial Muscles↗
PubMed2000

Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product.

The SMN gene is implicated in spinal muscular atrophy (SMA), and its product has been shown to interact with Bcl-2 protein to enhance its anti-apoptotic activity. In this study, we determined the regions that were essential for the interaction of Bcl-2 and SMN by co-immunoprecipitation of deletion mutants. Bcl-2 lacking its amino-terminal 20 amino acid residues or its carboxyl-terminal membrane-anchoring domain showed no or greatly reduced binding with SMN, respectively. However, Bcl-2 lacking other regions could still bind to SMN. Because Bcl-2 lacking the membrane-anchoring domain could bind to SMN in a yeast two-hybrid system, the amino-terminal region of Bcl-2 seems to be the most important domain for binding with SMN. A fragment of SMN encoded by exon 6 could bind to Bcl-2, but SMN lacking this region could not. From these results, we concluded that Bcl-2 and SMN proteins bound with each other at the amino-terminal region near the BH4 domain of Bcl-2 and the region encoded by exon 6 of SMN, both regions known to be important for their function.

Amino Acid Sequence↗
PubMed2006

Anabolic potential and regulation of the skeletal muscle satellite cell populations.

PURPOSE OF REVIEW: Satellite cells are required for muscle regeneration to occur properly. An understanding of the mechanisms that increase their number is important for potential therapeutic use in a variety of muscle disorders. RECENT FINDINGS: This article reviews the state of knowledge regarding mechanisms and factors involved in regulating the satellite cell population. An overview of the soluble factors intrinsic to the regulation of the activation, proliferation and differentiation of satellite cells is presented. We also highlight our current knowledge of satellite cell specification that provides a potential basis for increasing satellite cell numbers by manipulating different cell types. Finally, summarizing our current knowledge of satellite cell self-renewal offers insight for possible avenues to increase the supply of satellite cells. SUMMARY: Multiple approaches for increasing the number and activity of satellite cells will lead to treatments for muscular diseases. For example, in muscular dystrophy the exhaustion of satellite cells is the principal cause of death.

Animals↗
PubMed1990

Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement.

Magnetic resonance imaging of the lower extremities was performed with a low field system in 51 patients representing three different categories of biopsy-proven primary skeletal muscle disease; muscular dystrophies, congenital myopathies and polymyositis. The intermuscular distribution of abnormal signal intensity and the grade of involvement of individual muscles were assessed. Large differences in the degree of pathological signal intensity between individual muscles were found in all categories. In the muscular dystrophy and polymyositis patients, the overall involvement was significantly more severe than in patients with congenital myopathy. Definite patterns of selective involvement were seen. Statistical evidence of selective muscle sparing was found; the gracilis muscle was significantly less affected than the other muscles in all three disease groups. Other muscles with significant sparing include the rectus femoris and sartorius muscles of the thigh and the tibialis posterior muscle of the leg. Common anatomical and functional characteristics of muscles may be related to the distribution of muscular disease.

Adolescent↗
PubMed1988

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis.

We report six patients with Emery-Dreifuss muscular dystrophy (EDMD) and four patients including one female with EDMD phenotype (EDMDP). This series includes one sporadic case who had previously been reported in this journal under the diagnosis of "rigid spine syndrome" in 1977. Time of observation ranged from three to ten years. Detailed cardiological assessment was performed in all patients, skeletal muscle biopsies were obtained from 9 out of 10 and cardiac muscle biopsies from 2 out of 10 patients. One patient showed evidence of cardiomyopathy in the absence of clinically apparent neuromuscular disease and one sibling of another EDMD patient reportedly had a similar combination of symptoms which, to our knowledge, has not yet been reported. Cardiac involvement was found to consist of four independent, albeit often combined features: 1) impairment of impulse generating cells; 2) conduction defects with atrial preponderance; 3) increased atrial and ventricular heterotopia; and 4) functional impairment of ventricular myocardium. Ventricular involvement as apparent from ventricular heterotopia, abnormal enddiastolic diameter, decrease of contractility and/or morphological evidence of ventricular myocardial disease was found in 7 out of 10 patients and confirmed by myocardial histopathology in two EDMD patients. In one myocardial biopsy extensive accumulations of intermediate filaments were observed, a rare finding, which has not been linked to EDMD before. Skeletal muscle biopsies showed evidence of myopathy throughout but several equivocal features such as fibre type grouping in EDMD and fibre type disproportion in EDMDP were also observed. The variability of clinical manifestation of both cardiac and neuromuscular disease encompassed a broader spectrum than apparent from the literature. The consequences for the inherent differential diagnosis are discussed.

Adolescent↗